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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PIP4K2A

Variant:p.V28del1

PIP4K2A

66 papers

RefSeq Summary

Phosphatidylinositol-5,4-bisphosphate, the precursor to second messengers of the phosphoinositide signal transduction pathways, is thought to be involved in the regulation of secretion, cell prolifera...

Pfam Domains

PIP5Kaa 115–404UCSCPhosphatidylinositol-4-phosphate 5-Kinase

Gene Aliases

HGNC Name

phosphatidylinositol-5-phosphate 4-kinase type 2 alpha

HGNC Previous Symbol

PIP5K2A

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr10:22714242 TCAC>T

NM_005028.5

p.V28del1

c.82_83delCAC

exact variant not in gnomAD13 overlapping SVs

Surrounding Variants

1 paper

chr10:22714240 C>G

NM_005028.5

p.K29N

c.87G>C

exact variant not in gnomAD13 overlapping SVs

1 paper

chr10:22714199 C>A

NM_005028.5

p.W43L

c.128G>T

Exome: 0.0% (AC=28, hom=0)Genome: 0.0% (AC=4, hom=0)13 overlapping SVs

1 paper

chr10:22714298 GA>G

NM_005028.5

p.S10delFs

c.28delA

exact variant not in gnomAD13 overlapping SVs

1 paper

chr10:22714308 G>T

NM_005028.5

p.L7I

c.19C>A

exact variant not in gnomAD13 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."